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Year Number of Results
2012 1
2013 4
2018 2
2019 1
2020 4
2021 2
2022 3
2024 0

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16 results

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Page 1
Causal Genetic Variants in Stillbirth.
Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. Stanley KE, et al. Among authors: buchovecky c. N Engl J Med. 2020 Sep 17;383(12):1107-1116. doi: 10.1056/NEJMoa1908753. Epub 2020 Aug 12. N Engl J Med. 2020. PMID: 32786180 Free PMC article.
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Ganapathi M, Buchovecky CM, Cristo F, Ahimaz P, Ruzal-Shapiro C, Wou K, Inácio JM, Iglesias A, Belo JA, Jobanputra V. Ganapathi M, et al. Among authors: buchovecky cm. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006248. doi: 10.1101/mcs.a006248. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36316122 Free PMC article.
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Ganapathi M, Thomas-Wilson A, Buchovecky C, Dharmadhikari A, Barua S, Lee W, Ruan MZC, Soucy M, Ragi S, Tanaka J, Clark LN, Naini AB, Liao J, Mansukhani M, Tsang S, Jobanputra V. Ganapathi M, et al. Among authors: buchovecky c. Sci Rep. 2022 Jun 7;12(1):9358. doi: 10.1038/s41598-022-13026-2. Sci Rep. 2022. PMID: 35672425 Free PMC article.
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Cohen A, Hostyk J, Baugh EH, Buchovecky CM, Aggarwal VS, Recker RR, Lappe JM, Dempster DW, Zhou H, Kamanda-Kosseh M, Bucovsky M, Stubby J, Goldstein DB, Shane E. Cohen A, et al. Among authors: buchovecky cm. Bone. 2022 Jan;154:116253. doi: 10.1016/j.bone.2021.116253. Epub 2021 Nov 4. Bone. 2022. PMID: 34743040 Free PMC article.
Literature-based automated discovery of tumor suppressor p53 phosphorylation and inhibition by NEK2.
Choi BK, Dayaram T, Parikh N, Wilkins AD, Nagarajan M, Novikov IB, Bachman BJ, Jung SY, Haas PJ, Labrie JL, Pickering CR, Adikesavan AK, Regenbogen S, Kato L, Lelescu A, Buchovecky CM, Zhang H, Bao SH, Boyer S, Weber G, Scott KL, Chen Y, Spangler S, Donehower LA, Lichtarge O. Choi BK, et al. Among authors: buchovecky cm. Proc Natl Acad Sci U S A. 2018 Oct 16;115(42):10666-10671. doi: 10.1073/pnas.1806643115. Epub 2018 Sep 28. Proc Natl Acad Sci U S A. 2018. PMID: 30266789 Free PMC article.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B. Ganapathi M, et al. Among authors: buchovecky cm. Hum Genet. 2020 Nov;139(11):1443-1454. doi: 10.1007/s00439-020-02188-6. Epub 2020 Jun 8. Hum Genet. 2020. PMID: 32514796 Free PMC article.
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH, Dharmadhikari AV, Ragi SD, de Carvalho JRL Jr, Xu CL, Thomas AL, Buchovecky CM, Mansukhani MM, Naini AB, Liao J, Jobanputra V, Maumenee IH, Tsang SH. Abdelhakim AH, et al. Among authors: buchovecky cm. Orphanet J Rare Dis. 2020 Nov 13;15(1):320. doi: 10.1186/s13023-020-01600-8. Orphanet J Rare Dis. 2020. PMID: 33187544 Free PMC article.
16 results